A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543897



Internal ID15506400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99062433..99163429hg38UCSC Ensembl
Innerchr11:98933163..99034160hg19UCSC Ensembl
Innerchr11:98438373..98539370hg18UCSC Ensembl
Innerchr11:98438373..98539370hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38100997
hg19100998
hg18100998
hg17100998
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468823
Supporting Variants
SamplesHGDP00474
Known GenesCNTN5
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv543897
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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